Variant #0000011564 (NC_000007.14:g.117614450G>A, CFTR(NM_000492.4):c.3205G>A)

Individual ID 00005283
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.117614450G>A
Reference -
DB-ID chr7_000002
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Instituto Nacional del Cancer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
CFTR NM_000492.4 ?/? 21 c.3205G>A p.Gly1069Arg Hetero no r.? -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000009467 DNA SEQ-NG Fundación para el Progreso de la Medicina APC, ATM, BMPR1A, BRCA1, BRCA2, CASR, CDK4, CDKN2A, CEL, CFTR, CPA1, CTRC, EPCAM, MEN1, MLH1, MSH2, MSH6, PALB2, PMS2, PNLIP, PRSS1, SMAD4, SPINK1, STK11, TP53, TSC1, TSC2, VHL. ACMG SF 3.2 ACTA2, ACTC1, ACVRL1, APC, APOB, ATP7B, BAG3, BMPR1A, BRCA1, BRCA2, BTD, CACNA1S, CALM1, CALM2, CALM3, CASQ2, COL3A1, DES, DSC2, DSG2, DSP, ENG, FBN1, FLNC, GAA, GLA, HFE, HNF1A, KCNH2, KCNQ1, LDLR, LMNA, MAX, MEN1, MLH1, MSH2, MSH6, MUTYH, MYBPC3, MYH11, MYH7, MYL2, MYL3, NF2, OTC, PALB2, PCSK9, PKP2, PMS2, PRKAG2, PTEN, RB1, RBM20, RET, RPE65, RYR1, RYR2, SCN5A, SDHAF2, SDHB, SDHC, SDHD, SMAD3, SMAD4, STK11, TGFBR1, TGFBR2, TMEM127, TMEM43, TNNC1, TNNI3, TNNT2, TP53, TPM1, TRDN, TSC1, TSC2, TTN, TTR, VHL, WT1. 29-jan-2025 Whole exome - 1 Norma Rossi - Sanatorio Allende

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